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Protein

Tumor suppressor candidate 3

Gene

TUSC3

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

Functioni

Magnesium transporter (PubMed:19717468). May be involved in N-glycosylation through its association with N-oligosaccharyl transferase (PubMed:24685145).2 Publications1 Publication

GO - Molecular functioni

  • magnesium ion transmembrane transporter activity Source: UniProtKB

GO - Biological processi

  • cognition Source: UniProtKB
  • magnesium ion transmembrane transport Source: GOC
  • magnesium ion transport Source: UniProtKB
  • protein N-linked glycosylation Source: UniProtKB
  • protein N-linked glycosylation via asparagine Source: UniProtKB
  • transmembrane transport Source: Reactome
Complete GO annotation...

Keywords - Biological processi

Transport

Keywords - Ligandi

Magnesium

Enzyme and pathway databases

ReactomeiR-HSA-446203. Asparagine N-linked glycosylation.
R-HSA-5223345. Miscellaneous transport and binding events.

Protein family/group databases

TCDBi1.A.76.1.2. the magnesium transporter1 (magt1) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Tumor suppressor candidate 3
Alternative name(s):
Magnesium uptake/transporter TUSC3
Protein N33
Gene namesi
Name:TUSC3
Synonyms:N33
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

HGNCiHGNC:30242. TUSC3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini42 – 196155LumenalSequence analysisAdd
BLAST
Transmembranei197 – 21721HelicalSequence analysisAdd
BLAST
Topological domaini218 – 2214CytoplasmicSequence analysis
Transmembranei222 – 24221HelicalSequence analysisAdd
BLAST
Topological domaini243 – 27634LumenalSequence analysisAdd
BLAST
Transmembranei277 – 29721HelicalSequence analysisAdd
BLAST
Topological domaini298 – 31215CytoplasmicSequence analysisAdd
BLAST
Transmembranei313 – 33321HelicalSequence analysisAdd
BLAST
Topological domaini334 – 34815LumenalSequence analysisAdd
BLAST

GO - Cellular componenti

  • endoplasmic reticulum membrane Source: Reactome
  • integral component of plasma membrane Source: UniProtKB
  • mitochondrion Source: UniProtKB
  • oligosaccharyltransferase complex Source: HGNC
  • plasma membrane Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Endoplasmic reticulum, Membrane

Pathology & Biotechi

Involvement in diseasei

Mental retardation, autosomal recessive 7 (MRT7)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
See also OMIM:611093

Keywords - Diseasei

Mental retardation

Organism-specific databases

MalaCardsiTUSC3.
MIMi611093. phenotype.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA128394537.

Polymorphism and mutation databases

BioMutaiTUSC3.
DMDMi6166601.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Signal peptidei1 – 4141Sequence analysisAdd
BLAST
Chaini42 – 348307Tumor suppressor candidate 3PRO_0000215300Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Disulfide bondi99 ↔ 102Redox-activeCombined sources1 Publication

Keywords - PTMi

Disulfide bond

Proteomic databases

EPDiQ13454.
MaxQBiQ13454.
PaxDbiQ13454.
PRIDEiQ13454.

PTM databases

iPTMnetiQ13454.
PhosphoSiteiQ13454.

Expressioni

Tissue specificityi

Expressed in most non-lymphoid cells and tissues examined, including prostate, lung, liver, colon, heart, kidney and pancreas.1 Publication

Gene expression databases

BgeeiQ13454.
CleanExiHS_TUSC3.
ExpressionAtlasiQ13454. baseline and differential.
GenevisibleiQ13454. HS.

Organism-specific databases

HPAiHPA049851.

Interactioni

Subunit structurei

Weakly associates with the oligosaccharyl transferase (OST) complex which contains at least RPN1/ribophorin I, RPN2/ribophorin II, OST48, DAD1, and either STT3A or STT3B.1 PublicationBy similarity

Protein-protein interaction databases

BioGridi113701. 22 interactions.
IntActiQ13454. 1 interaction.
MINTiMINT-1192091.
STRINGi9606.ENSP00000221167.

Structurei

Secondary structure

1
348
Legend: HelixTurnBeta strand
Show more details
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Helixi44 – 6219Combined sources
Beta strandi64 – 674Combined sources
Helixi70 – 767Combined sources
Beta strandi84 – 918Combined sources
Helixi95 – 973Combined sources
Helixi100 – 11819Combined sources
Beta strandi126 – 1327Combined sources
Turni133 – 1353Combined sources
Helixi137 – 1426Combined sources
Beta strandi150 – 1545Combined sources
Beta strandi156 – 1583Combined sources
Helixi162 – 1643Combined sources
Helixi168 – 1714Combined sources
Helixi175 – 18612Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4M8GX-ray2.00A/B44-194[»]
4M90X-ray1.60A44-194[»]
4M91X-ray1.10A44-194[»]
4M92X-ray1.60A44-194[»]
ProteinModelPortaliQ13454.
SMRiQ13454. Positions 44-194.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini59 – 187129ThioredoxinAdd
BLAST

Sequence similaritiesi

Belongs to the OST3/OST6 family.Curated
Contains 1 thioredoxin domain.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiKOG2603. Eukaryota.
ENOG410XR1F. LUCA.
GeneTreeiENSGT00390000012030.
HOGENOMiHOG000231301.
HOVERGENiHBG002493.
InParanoidiQ13454.
KOiK12669.
OMAiMRLLHKT.
OrthoDBiEOG7ZGX3T.
PhylomeDBiQ13454.
TreeFamiTF314850.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR021149. OligosaccharylTrfase_OST3/OST6.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF04756. OST3_OST6. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q13454-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGARGAPSRR RQAGRRLRYL PTGSFPFLLL LLLLCIQLGG GQKKKENLLA
60 70 80 90 100
EKVEQLMEWS SRRSIFRMNG DKFRKFIKAP PRNYSMIVMF TALQPQRQCS
110 120 130 140 150
VCRQANEEYQ ILANSWRYSS AFCNKLFFSM VDYDEGTDVF QQLNMNSAPT
160 170 180 190 200
FMHFPPKGRP KRADTFDLQR IGFAAEQLAK WIADRTDVHI RVFRPPNYSG
210 220 230 240 250
TIALALLVSL VGGLLYLRRN NLEFIYNKTG WAMVSLCIVF AMTSGQMWNH
260 270 280 290 300
IRGPPYAHKN PHNGQVSYIH GSSQAQFVAE SHIILVLNAA ITMGMVLLNE
310 320 330 340
AATSKGDVGK RRIICLVGLG LVVFFFSFLL SIFRSKYHGY PYSDLDFE
Length:348
Mass (Da):39,676
Last modified:November 1, 1996 - v1
Checksum:i16D97CB1E00C5190
GO
Isoform 2 (identifier: Q13454-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     344-348: DLDFE → FLIK

Show »
Length:347
Mass (Da):39,558
Checksum:i538641E36C51905D
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti65 – 651I → V.
Corresponds to variant rs11545035 [ dbSNP | Ensembl ].
VAR_045836
Natural varianti247 – 2471M → V.1 Publication
VAR_069369

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei344 – 3485DLDFE → FLIK in isoform 2. 2 PublicationsVSP_003776

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U42349 mRNA. Translation: AAB18374.1.
U42359
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18375.1.
U42360
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18376.1.
BT020002 mRNA. Translation: AAV38805.1.
AC010656 Genomic DNA. No translation available.
AC019292 Genomic DNA. No translation available.
AC091559 Genomic DNA. No translation available.
AC100850 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63837.1.
CH471080 Genomic DNA. Translation: EAW63839.1.
BC010370 mRNA. Translation: AAH10370.1.
CCDSiCCDS5993.1. [Q13454-2]
CCDS5994.1. [Q13454-1]
PIRiG02297.
RefSeqiNP_006756.2. NM_006765.3. [Q13454-1]
NP_839952.1. NM_178234.2. [Q13454-2]
UniGeneiHs.426324.
Hs.600825.

Genome annotation databases

EnsembliENST00000382020; ENSP00000371450; ENSG00000104723. [Q13454-2]
ENST00000503731; ENSP00000424544; ENSG00000104723. [Q13454-1]
GeneIDi7991.
KEGGihsa:7991.
UCSCiuc003wwt.4. human. [Q13454-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U42349 mRNA. Translation: AAB18374.1.
U42359
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18375.1.
U42360
, U42350, U42351, U42352, U42354, U42355, U42356, U42357, U42358 Genomic DNA. Translation: AAB18376.1.
BT020002 mRNA. Translation: AAV38805.1.
AC010656 Genomic DNA. No translation available.
AC019292 Genomic DNA. No translation available.
AC091559 Genomic DNA. No translation available.
AC100850 Genomic DNA. No translation available.
CH471080 Genomic DNA. Translation: EAW63837.1.
CH471080 Genomic DNA. Translation: EAW63839.1.
BC010370 mRNA. Translation: AAH10370.1.
CCDSiCCDS5993.1. [Q13454-2]
CCDS5994.1. [Q13454-1]
PIRiG02297.
RefSeqiNP_006756.2. NM_006765.3. [Q13454-1]
NP_839952.1. NM_178234.2. [Q13454-2]
UniGeneiHs.426324.
Hs.600825.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
EntryMethodResolution (Å)ChainPositionsPDBsum
4M8GX-ray2.00A/B44-194[»]
4M90X-ray1.60A44-194[»]
4M91X-ray1.10A44-194[»]
4M92X-ray1.60A44-194[»]
ProteinModelPortaliQ13454.
SMRiQ13454. Positions 44-194.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113701. 22 interactions.
IntActiQ13454. 1 interaction.
MINTiMINT-1192091.
STRINGi9606.ENSP00000221167.

Protein family/group databases

TCDBi1.A.76.1.2. the magnesium transporter1 (magt1) family.

PTM databases

iPTMnetiQ13454.
PhosphoSiteiQ13454.

Polymorphism and mutation databases

BioMutaiTUSC3.
DMDMi6166601.

Proteomic databases

EPDiQ13454.
MaxQBiQ13454.
PaxDbiQ13454.
PRIDEiQ13454.

Protocols and materials databases

DNASUi7991.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000382020; ENSP00000371450; ENSG00000104723. [Q13454-2]
ENST00000503731; ENSP00000424544; ENSG00000104723. [Q13454-1]
GeneIDi7991.
KEGGihsa:7991.
UCSCiuc003wwt.4. human. [Q13454-1]

Organism-specific databases

CTDi7991.
GeneCardsiTUSC3.
GeneReviewsiTUSC3.
HGNCiHGNC:30242. TUSC3.
HPAiHPA049851.
MalaCardsiTUSC3.
MIMi601385. gene.
611093. phenotype.
neXtProtiNX_Q13454.
Orphaneti88616. Autosomal recessive non-syndromic intellectual disability.
PharmGKBiPA128394537.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2603. Eukaryota.
ENOG410XR1F. LUCA.
GeneTreeiENSGT00390000012030.
HOGENOMiHOG000231301.
HOVERGENiHBG002493.
InParanoidiQ13454.
KOiK12669.
OMAiMRLLHKT.
OrthoDBiEOG7ZGX3T.
PhylomeDBiQ13454.
TreeFamiTF314850.

Enzyme and pathway databases

ReactomeiR-HSA-446203. Asparagine N-linked glycosylation.
R-HSA-5223345. Miscellaneous transport and binding events.

Miscellaneous databases

ChiTaRSiTUSC3. human.
GeneWikiiTUSC3.
GenomeRNAii7991.
PROiQ13454.
SOURCEiSearch...

Gene expression databases

BgeeiQ13454.
CleanExiHS_TUSC3.
ExpressionAtlasiQ13454. baseline and differential.
GenevisibleiQ13454. HS.

Family and domain databases

Gene3Di3.40.30.10. 1 hit.
InterProiIPR021149. OligosaccharylTrfase_OST3/OST6.
IPR012336. Thioredoxin-like_fold.
[Graphical view]
PfamiPF04756. OST3_OST6. 1 hit.
[Graphical view]
SUPFAMiSSF52833. SSF52833. 1 hit.
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "Structure and methylation-associated silencing of a gene within a homozygously deleted region of human chromosome band 8p22."
    Macgrogan D., Levy A., Bova G.S., Isaacs W.B., Bookstein R.
    Genomics 35:55-65(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2).
  2. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  3. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  4. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
    Tissue: Skin.
  6. "Oligosaccharyltransferase isoforms that contain different catalytic STT3 subunits have distinct enzymatic properties."
    Kelleher D.J., Karaoglu D., Mandon E.C., Gilmore R.
    Mol. Cell 12:101-111(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE OLIGOSACCHARYLTRANSFERASE (OST) COMPLEX, TISSUE SPECIFICITY.
  7. Cited for: INVOLVEMENT IN MRT7.
  8. "A defect in the TUSC3 gene is associated with autosomal recessive mental retardation."
    Garshasbi M., Hadavi V., Habibi H., Kahrizi K., Kariminejad R., Behjati F., Tzschach A., Najmabadi H., Ropers H.H., Kuss A.W.
    Am. J. Hum. Genet. 82:1158-1164(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: INVOLVEMENT IN MRT7.
  9. "Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development."
    Zhou H., Clapham D.E.
    Proc. Natl. Acad. Sci. U.S.A. 106:15750-15755(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN MAGNESIUM UPTAKE.
  10. "Structural basis of substrate specificity of human oligosaccharyl transferase subunit N33/Tusc3 and its role in regulating protein N-glycosylation."
    Mohorko E., Owen R.L., Malojcic G., Brozzo M.S., Aebi M., Glockshuber R.
    Structure 22:590-601(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: X-RAY CRYSTALLOGRAPHY (1.10 ANGSTROMS) OF 44-194, DISULFIDE BOND, PROPOSED FUNCTION.
  11. Cited for: VARIANT VAL-247.

Entry informationi

Entry nameiTUSC3_HUMAN
AccessioniPrimary (citable) accession number: Q13454
Secondary accession number(s): A8MSM0
, D3DSP2, Q14911, Q14912, Q96FW0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: November 1, 1996
Last modified: June 8, 2016
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.